Key takeaways:

  • Our new human exome sequencing solution INVIEW Human Exome has been launched in February of 2022.
  • The INVIEW Human Exome solution utilises the Agilent SureSelect Human All Exon V8 panel that includes an up-to-date coverage of protein-coding regions, hard-to-capture exons and the TERT promoter.
  • Our LEAN-optimised and LIMS-controlled production pipeline enables fast sample processing and delivery of sequencing results.

Exome sequencing

The human exome, the protein coding regions, constitutes around 1% of the whole human genome. But, at the same time, the exome contains around 85% of the genetic variations that have the greatest effect on disease-related characteristics (Petersen et al., 2017).

One could argue that this “inequality” is an advantage. If we only need to deeply understand 1% of the genome, and the inherited or acquired variants herein, to predict the susceptibility to most diseases, and find therapeutic targets, it is an advantage.

The basis of understanding genetic variations in the exome and their effects is a thorough and accurate sequencing of the exome. Here, the constant improvement of the technology to obtain the best possible sequencing results is crucial. This includes improved coverage of exons, regulatory regions such as promoters, hard-to-capture regions, genomic rearrangements and larger insertions and deletions (indels).

The new human exome sequencing solutions

At Eurofins Genomics, we take improvement and innovation very serious; especially innovation of our genomics solutions. The new, further enhanced and most cost-effective Eurofins Genomics exome sequencing solution INVIEW Human Exome utilises the latest Agilent SureSelect Human All Exon V8 panel. This panel excels in improved enrichment and more uniform coverage across target regions (figures 1-3).

Figure 1:  Agilent SureSelect Human All Exon V8 shows uniform target coverage. All samples were downsampled to 25M read pairs.


Figure 2: Comparison of the normalised coverage distribution between Agilent SureSelect Human All Exon V6 and V8 panel. The V6 panel already has a very uniform distribution of coverage. For the V8 panel, uniformity has been further increased.
Figure 3: Comparison of coverage distribution across GC content for Agilent SureSelect Human All Exon V6 and V8 panel. V8 provides more uniform coverage distribution across GC content. Targets with high and low GC content are better represented than with V6. Classes are defined based on distribution of normalised coverage of targets: High > 1.25; Normal ≥ 0.75 & ≤ 1.25; Moderate ≥ 0.5 & ≤ 0.75; Low ≥ 0.55 & ≤ 0.5; Bottom ≤ 0.25.

When it comes to sequencing, we also utilise the latest technology from the most trusted sequencing platform provider to deliver highest quality results: The NovaSeq 6000 from Illumina.

These innovations are complemented by a high degree of process automation in our labs and our LIMS-controlled production pipeline.

Exome sequencing with the new INVIEW Human Exome solution:

  • 9 working days for up to 24 samples
  • 14 working days for up to 48 samples
  • 24 working days for up to 240 samples

Our detailed routine benchmarking and validation process enabled the fast launch of our new exome sequencing solutions. The INVIEW Human Exome solution is available from the beginning of February 2022.

Human exome sequencing with flexibility of coverage and price

Choose the most cost-effective version INVIEW Human Exome Standard with average 100x on target coverage to analyse germline mutations from €199 / sample.

Read more about human exome sequencing, its applications and workflow.

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Petersen, B. S., Fredrich, B., Hoeppner, M. P., Ellinghaus, D., & Franke, A. (2017) Opportunities and challenges of whole-genome and -exome sequencing. BMC genetics, 18(1): 14.


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